Nakamori Yoshitaka, Fukuda Naofumi, Shinohara Kenji, Hattori Yukio
Division of Hematology, Department of Medicine, Yamaguchi Prefecture Central Hospital.
Rinsho Ketsueki. 2002 Mar;43(3):194-8.
We report a 43-year-old Japanese woman with microcytic and hypochromic anemia, who had been erroneously diagnosed as having iron deficiency anemia 20 years previously at the time of her first labor, and treated with iron and blood transfusion. At the present visit to our clinic, she was found to have an increased HbA2 level and prolonged glycerol lysis time. Genetic analysis of the beta-globin gene revealed deletion of 3 bases at codons 127/128 (CAG/GCT-->CCT). A genetic study of the patient's family showed that two of her four children possessed the same mutation. The patient had mild anemia, her first son had very mild anemia, and her second daughter had moderate anemia with hemolysis. These affected family members were diagnosed as having dominant-phenotype beta-thalassemia.
我们报告一名43岁的日本女性，患有小细胞低色素性贫血。她在首次分娩时被误诊为缺铁性贫血，于20年前接受了铁剂治疗和输血。在本次就诊时，发现她的HbA2水平升高，甘油溶解时间延长。β-珠蛋白基因的遗传分析显示，密码子127/128处有3个碱基缺失（CAG/GCT→CCT）。对该患者家族的基因研究表明，她的四个孩子中有两个具有相同的突变。患者患有轻度贫血，她的长子患有非常轻度的贫血，她的次女患有中度贫血并伴有溶血。这些受影响的家庭成员被诊断为显性表型β地中海贫血。
